KRT6B (keratin 6B)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3854
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 6B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT6B
Synonyms (NCBI Gene) Gene synonyms aliases
CK-6B, CK6B, K6B, KRTL1, PC2, PC4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PC2, PC4
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs60627726 C>T Pathogenic Missense variant, coding sequence variant
rs267607472 TTG>- Pathogenic Inframe deletion, coding sequence variant
rs267607473 C>T Pathogenic Missense variant, coding sequence variant
rs1131691901 A>T Likely-pathogenic Missense variant, coding sequence variant
rs1592169234 A>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT020647 hsa-miR-155-5p Proteomics 18668040
MIRT028499 hsa-miR-30a-5p Proteomics 18668040
MIRT2258890 hsa-miR-1200 CLIP-seq
MIRT2258891 hsa-miR-3659 CLIP-seq
MIRT2258892 hsa-miR-4280 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton TAS 9618173
GO:0005515 Function Protein binding IPI 16189514, 25416956, 32296183
GO:0005829 Component Cytosol TAS
GO:0007010 Process Cytoskeleton organization IEA
GO:0007398 Process Ectoderm development TAS 9618173
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
148042 6444 ENSG00000185479
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P04259
Protein name Keratin, type II cytoskeletal 6B (Cytokeratin-6B) (CK-6B) (Keratin-6B) (K6B) (Type-II keratin Kb10)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 17 → 159 Keratin type II head Family
PF00038 Filament 162 → 475 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.
Sequence
Sequence length 564
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 15274141
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Pachyonychia Congenita pachyonychia congenita GenCC
Show/Hide Text Mining Associations (20)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 20839314
Breast Neoplasms Associate 25012653, 40650045
Carcinoma Basal Cell Associate 31047981
Carcinoma Ovarian Epithelial Associate 26840454
Carcinoma Renal Cell Associate 26464664
Carcinoma Squamous Cell Associate 20839314
Colorectal Neoplasms Associate 34911835
Diabetic Nephropathies Associate 36444934
Inflammation Inhibit 36839242
Lung Neoplasms Stimulate 28619761